DTNA Chromosome 18
Dystrobrevin alpha
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What This Gene Does
The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Zinc fingers ZZ-type
Locus Type
gene with protein product
Location
18q12.1
Ensembl
ENSG00000134769
Associated Conditions (9)
Cardiac arrhythmia
Noncompaction cardiomyopathy
Left ventricular noncompaction 1
DTNA-related disorder
Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Left ventricular noncompaction cardiomyopathy
Ventricular tachycardia
Meniere disease
Key Variants
RS1057518968
Conflicting classifications of pathogenicity
Cardiac arrhythmia, Noncompaction cardiomyopathy, Left ventricular noncompaction 1
Health Risk
RS1268810426
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, Left ventricular noncompaction 1
Health Risk
RS138143719
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, Left ventricular noncompaction 1
Health Risk
RS139872140
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1
Health Risk
RS141981161
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1
Health Risk
RS142009291
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, Left ventricular noncompaction 1
Health Risk
RS144880521
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1
Health Risk
RS145425478
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Left ventricular noncompaction 1, Hypertrophic cardiomyopathy
Health Risk
RS147115867
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, Left ventricular noncompaction 1
Health Risk
RS147782267
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, Left ventricular noncompaction 1
Health Risk
RS148123045
Conflicting classifications of pathogenicity
Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1
Health Risk
RS1568718517
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Left ventricular noncompaction 1, Primary dilated cardiomyopathy
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518968 | Health Risk | Conflicting classifications of pathogenicity | Cardiac arrhythmia, Noncompaction cardiomyopathy, Left ventricular noncompaction 1 |
| RS1268810426 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS138143719 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS139872140 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1 |
| RS141981161 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1 |
| RS142009291 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS144880521 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1 |
| RS145425478 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Left ventricular noncompaction 1, Hypertrophic cardiomyopathy |
| RS147115867 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS147782267 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS148123045 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1 |
| RS1568718517 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Left ventricular noncompaction 1, Primary dilated cardiomyopathy |
| RS190619495 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1 |
| RS191973037 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199867593 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Left ventricular noncompaction 1, Primary dilated cardiomyopathy |
| RS200246467 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS201756674 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS372126412 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Ventricular tachycardia |
| RS376651004 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS530066221 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS533568822 | Health Risk | Conflicting classifications of pathogenicity | Meniere disease, Left ventricular noncompaction 1, Meniere disease |
| RS764242924 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS769729466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774966330 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, Left ventricular noncompaction 1 |
| RS794729006 | Health Risk | Conflicting classifications of pathogenicity | Left ventricular noncompaction 1, DTNA-related disorder, Left ventricular noncompaction 1 |